A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

Autor:	Vincenzo, Montano, Michelangelo, Mancuso, Costanza, Simoncini, Francesca, Torri, Lucia, Chico, Greta, Ali, Anna, Rocchi, Fulvia, Baldinotti, Maria Adelaide, Caligo, Giovanna, Lattanzi, Elisabetta, Mattioli, Giovanna, Cenacchi, Andrea, Barison, Gabriele, Siciliano, Giulia, Ricci
Rok vydání:	2022
Předmět:	LMNA-associated diseases Muscle Weakness Muscle disorders DNA Lamin Type A DNA Mitochondrial Muscular Dystrophies Mitochondrial mitochondria myopathies Humans Mutation Muscular Dystrophies Limb-Girdle Limb-Girdle Neurology Neurology (clinical)
Zdroj:	Journal of Neuromuscular Diseases. 9:457-462
ISSN:	2214-3602 2214-3599
DOI:	10.3233/jnd-220802
Popis:	Background: Proximal muscle weakness may be the presenting clinical feature of different types of myopathies, including limb girdle muscular dystrophy and primary mitochondrial myopathy. LGMD1B is caused by LMNA mutation. It is characterized by progressive weakness and wasting leading to proximal weakness, cardiomyopathy, and hearth conduction block. Objective: In this article, we describe the case of a patient who presented with limb-girdle weakness and a double trouble scenario –mitochondrial DNA single deletion and a new LMNA mutation. Methods: Pathophysiological aspects were investigated with muscle biopsy, Western Blot analysis, NGS nuclear and mtDNA analysis and neuromuscular imaging (muscle and cardiac MRI). Results: Although secondary mitochondrial involvement is possible, a “double trouble” syndrome can not be excluded. Conclusion: Implication deriving from hypothetical coexistence of two different pathological conditions or the possible secondary mitochondrial involvement are discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8088f253ee11280a5c1c981ab6e27b10 https://doi.org/10.3233/jnd-220802 Zobrazit plný text záznamu